摘要
目的 分析雄激素不敏感综合征(androgen insensitivity syndrome,AIS)患者的临床资料和遗传学结果.方法 收集2017-2022年在江西省儿童医院就诊的9例AIS患者临床资料,完善相关实验室检查及性腺、腹股沟彩超,并进行基因突变检测.结果 9例患者染色体均为男性核型,其中7例患者的社会性别为女性,2例为男性;所有患者就诊原因均有腹股沟斜疝(或伴有性别模糊),均发现AR基因突变,病例1为新突变(p.R608fs*18).66.6％(6/9)的AIS患者突变位于配体结合域(ligand binding domain,LDB),80％(4/5)的完全型雄激素不敏感综合征患者突变位于LBD,50.0％(2/4)的部分型雄激素不敏感综合征患者突变位于LBD.55.5％(5/9)AIS患者突变类型为错义突变.结论 错义突变为AR基因常见突变类型,LBD是AIS的主要突变部位,外生殖器表现为女性患者,如发现腹股沟斜疝,应常规行性腺及腹股沟彩超检查以排外AIS.
Abstract
Objective To analyze clinical data and genetic results in patients with androgen in-sensitivity syndrome(AIS).Methods Clinical data of 9 AIS patients who attended Jiangxi Chil-dren's Hospital from 2017 to 2022 were collected;relevant laboratory tests and gonadal and in-guinal ultrasound were improved;gene mutation testing was performed.Results The chromo-somes of all 9 patients were of male karyotype,the social sex of 7 patients being female and 2 male;all patients had oblique inguinal hernia(or with gender ambiguity)as the reason for their visit;all of them were found to have mutations in the AR gene,with 1 case being a new mutation(p.R608fs*18).66.6％(6/9)of AIS patients had mutations in ligand binding domains;80％(4/5)of complete androgen insensitivity syndrome patients had mutations in LBD;50％(2/4)of partial androgen insensitivity syndrome patients had mutations in LBD;missense mutations were found in 55.5％(5/9)of AIS patients.Conclusion Missense mutations could be the common mutation type of AR gene;LBD could be the main mutation site of AIS,and external genitalia might mani-fest in female patients.If oblique inguinal hernia is found,gonad and inguinal color ultrasound could be routinely considered to exclude AIS.
基金项目
江西省自然科学基金资助项目(20202BABL206039)
NETL
NSTL
万方数据